P88S (p.Pro88Ser) variant of GJA5 (Gap junction alpha-5 protein)
P88S (p.Pro88Ser) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atrial fibrillation, somatic. The record also includes published literature.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- rs121434558
- ClinGen CA127022
- ClinVar RCV000018522
- UniProt VAR 035013
- Pathogenic
- Atrial fibrillation, somatic
- Missense
- ClinVar: Pathogenic (Atrial fibrillation, somatic)
- EBI: Pathogenic (in ATRST1)
- UniProt: Pathogenic (in ATRST1)
- Cited in: Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. (PMID 16790700)